نتایج جستجو برای: congenital myopathy
تعداد نتایج: 131548 فیلتر نتایج به سال:
X-linked myotubular myopathy usually presents at birth with hypotonia and respiratory distress. Phenotypic presentation, however, can be extreme variable. We report on a newborn baby, who presented with the severe form of the disease. In the second week of life, he developed a clinically relevant chylothorax, needing drainage and treatment with octreotide acetate. Pleural effusions are frequent...
Nemaline myopathy is a rare congenital disease that generally occurs in childhood. We report a case of a 50-year-old man who presented with severe heart failure as the initial manifestation of nemaline myopathy. Soon after he developed acute restrictive respiratory failure due to the diaphragmatic paralysis. The diagnosis of "nemaline myopathy" was obtained on muscle biopsy performed one year l...
Myotubularin is a lipid phosphatase implicated in endosomal trafficking in vitro, but with an unknown function in vivo. Mutations in myotubularin cause myotubular myopathy, a devastating congenital myopathy with unclear pathogenesis and no current therapies. Myotubular myopathy was the first described of a growing list of conditions caused by mutations in proteins implicated in membrane traffic...
Congenital myasthenic syndromes are a clinically and genetically heterogeneous group of rare diseases resulting from impaired neuromuscular transmission. Their clinical hallmark is fatigable muscle weakness associated with a decremental muscle response to repetitive nerve stimulation and frequently related to postsynaptic defects. Distal myopathies form another clinically and genetically hetero...
BACKGROUND Interpretation of pediatric electromyography interpretation in myopathic disorders is technically challenging. We assessed our electromyographic experience with respect to sensitivity and specificity in pediatric myopathy. METHODS We did a retrospective chart review of patients ≤18 years between 2009 and 2013. Two hundred twenty-four electromyographic studies were reviewed with the...
Structurally abnormal mitochondria were found in skeletal muscle cells from a woman with hypertrophic cardiomyopathy and myopathy of voluntary muscles associated with congenital cataracts. Moderate exercise resulted in lactic acidosis. Oxidation of pyruvate and other substrates and the production of adenosine triphosphate were normal in vitro. A younger brother of the patient had had congenital...
X-linked myotubular myopathy (XLMTM) is a rare congenital myopathy, usually characterized by severe hypotonia and respiratory insufficiency at birth, in affected, male infants. The disease is causally associated with mutations in the MTM1 gene, coding for phosphatase myotubularin. We report a severe case of XLMTM with a novel mutation, at a donor splicing site (c.1467+1G) previously associated ...
The aim of the work was to analyze available therapeutic options for conventional therapy hereditary myopathies. Materials and methods. When searching material writing a review article, such abstract databases as PubMed Google Scholar were used. search carried out on publications during period from 1980 September 2022. following words their combinations selected parameters literature selection:...
AIMS To report the clinical, pathological and genetic findings in a group of patients with a previously not described phenotype of congenital myopathy due to recessive mutations in the gene encoding the type 1 muscle ryanodine receptor channel (RYR1). METHODS Seven unrelated patients shared a predominant axial and proximal weakness of varying severity, with onset during the neonatal period, a...
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